A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

• Published in: Human genome variation Vol. 8; no. 1; p. 21
• Main Authors: Morikawa, Takuya, Miura, Shiroh, Tateishi, Takahisa, Noda, Kazuhito, Shibata, Hiroki
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 25.05.2021; Springer Nature B.V; Nature Publishing Group
• Subjects: 631/378/1689/364; 692/699/375/364; Biomedical and Life Sciences; Biomedicine; Data Report; Gene Expression; Gene Function; Gene Therapy; Hereditary spastic paraplegia; Human Genetics; Molecular Medicine; Paralysis; Pathogenicity; Spasticity
• ISSN: 2054-345X; 2054-345X
• DOI: 10.1038/s41439-021-00153-x

Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a “likely pathogenic” variant. 5 Ascertainment of additional patients carrying this variant in an unrelated Japanese SPG family further supports its pathogenicity. Molecular diagnosis of SPG4 in this family with hereditary spastic paraplegia is confirmed.